Variants in the CAV2 gene have not been reported in relation any disease. CAV2 gene is known to be co-localized with CAV1 gene and has not been associated with any disease independently. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in inheritance pattern and phenotypic variability for these assertions. Therefore, these assertions have been split into the following disease entities: autosomal dominant Amyotrophic lateral Sclerosis (ALS), Pulmonary Hypertension (PPH3), Congenital Lipodystrophy (CGL3) and Familial Lipodystrophy – Type 7 (FPLD7). This curation for autosomal dominant ALS does not include probands from the other reported diseases. Heterozygous missense variants in enhancer regions of the CAV2 gene have been reported till date in individuals with ALS (PMIDs: 33264630). In all instances of literature when available, affected probands with CAV1/CAV2 enhancer variants are identified to have dysregulated caveolar protein expression levels (PMIDs: 33264630, 36937187, 30894019). The maximum score for genetic evidence reached is 3.5 (Limited 0-6). Evidence supporting this gene disease pair also includes experimental data from patient lymphoblastoid cells and and IPSC derived neurons measuring expression of the calveolar protein (33264630, 36937187, 30894019).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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